Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency


Huemer M., Carvalho D. R. , Brum J. M. , Unal Ö. , COŞKUN T., Weisfeld-Adams J. D. , ...More

JOURNAL OF INHERITED METABOLIC DISEASE, vol.39, no.3, pp.331-340, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 3
  • Publication Date: 2016
  • Doi Number: 10.1007/s10545-016-9928-y
  • Title of Journal : JOURNAL OF INHERITED METABOLIC DISEASE
  • Page Numbers: pp.331-340

Abstract

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.